Submissions for variant NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) (rs147680216)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center	RCV000490390	SCV000267562	uncertain significance	Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4	2016-03-18	criteria provided, single submitter	reference population
Illumina Clinical Services Laboratory,Illumina	RCV000128463	SCV000427556	likely benign	Tooth agenesis, selective, 4	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina	RCV000270809	SCV000427557	benign	Schopf-Schulz-Passarge syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina	RCV000325824	SCV000427558	benign	Odonto-onycho-dermal dysplasia	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000490390	SCV001013761	benign	Odonto-onycho-dermal dysplasia; Tooth agenesis, selective, 4	2019-12-31	criteria provided, single submitter	clinical testing
OMIM	RCV000128463	SCV000172165	pathogenic	Tooth agenesis, selective, 4	2014-02-01	no assertion criteria provided	literature only
Yale Center for Mendelian Genomics,Yale University	RCV000845115	SCV000987051	uncertain significance	Reduced number of teeth	2014-09-15	no assertion criteria provided	literature only